日本先天異常学会会報
Online ISSN : 2433-1503
Print ISSN : 0037-2285
47 巻 , 4 号
Congenital Anomalies
選択された号の論文の13件中1~13を表示しています
  • 2007 年 47 巻 4 号 p. A1-A30
    発行日: 2007年
    公開日: 2021/08/11
    ジャーナル オープンアクセス
  • 2007 年 47 巻 4 号 p. J5-J8
    発行日: 2007年
    公開日: 2021/08/11
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  • 2007 年 47 巻 4 号 p. 1-3
    発行日: 2007年
    公開日: 2021/08/11
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  • 2007 年 47 巻 4 号 p. 113-118
    発行日: 2007年
    公開日: 2021/08/11
    ジャーナル オープンアクセス
    ABSTRACT  Dandy–Walker syndrome (DWS) is a brain malformation of unknown etiology, but several reports have been published indicating that there is a causal relationship to various types of chromosomal abnormalities and malformation syndromes. In the present article, we present a bibliographical survey of several previously issued reports on chromosomal abnormalities associated with DWS, including our case of DWS found in trisomy 18. There are various types of chromosomal abnormalities associated with DWS; most of them are reported in chromosome 3, 9, 13 and 18. We also summarize some other chromosomal abnormalities and various congenital malformation syndromes.
  • 2007 年 47 巻 4 号 p. 119-124
    発行日: 2007年
    公開日: 2021/08/11
    ジャーナル オープンアクセス
    ABSTRACT  The use of folic acid prior to conception is generally recommended for the prevention of birth defects, notably neural tube defects. In a previous study from Sweden, based on interviews of women in early pregnancy, no such effect was found on the general malformation rate, but data for neural tube defects were scarce. Using data from the Swedish Medical Birth Register for the years 1995–2004, 20 891 women were identified who reported the use of folic acid in early pregnancy, but not of anticonvulsants. These women were compared to all other women who gave birth during the study period. Malformations in the infants born were identified from multiple sources. No reduction in the general malformation rate was seen among infants born to women who reported the use of folic acid (OR = 1.09, 95% CI 1.02–1.17) and no effect of neural tube defect rate was seen (RR = 1.35, 95% CI 0.82–2.22), based on 16 infants with neural tube defect whose mother reported the use of folic acid. No effect was seen on the rates of other malformations except for cardiac defects, where a statistically significant increased risk (notably for severe defects) was found (OR = 1.19, 95% CI 1.05–1.35). The effect of various deficiencies in data collection is discussed, but is unlikely to explain the lack of protective effect noticed. So far, it has not been possible to demonstrate a beneficial effect of folic acid supplementation on malformation risk in Sweden. A more complete ascertainment and detailed timing and dosage of folic acid use in a prospective study is recommended.
  • 2007 年 47 巻 4 号 p. 125-135
    発行日: 2007年
    公開日: 2021/08/11
    ジャーナル オープンアクセス
    ABSTRACT  Dysgenesis of the corpus callosum has been recognized as a marker for aberrant development of the central nervous system. It has been suggested that developmental defects of the corpus callosum may be more frequently encountered in patients with inborn errors of metabolism. The objectives of the present study were to determine the prevalence of developmental defects of the corpus callosum in patients attending a genetics-metabolic disorders clinic, to describe the spectrum of abnormalities in brain development in patients with confirmed inborn errors of metabolism and abnormalities of the corpus callosum as ascertained by neuroimaging and/or postmortem studies. Nineteen patients (10 males, 9 females) with confirmed metabolic diagnoses were identified by systematic search of the genetics clinic database. All 19 (100%) expressed variable degrees of hypoplasia, complete or partial agenesis (ACC). Abnormalities of head size were noted in 17/19 (89.5%). The majority 12/17 (70.5%) were associated with microcephaly, while macrocrania was noted in 5/17 (29.5%). Associated central nervous system (CNS) anomalies included abnormalities in ventricular morphology in 18/19 (94.7%), ventriculomegaly in 11/19 (63.1%), increased extraxial cerebrospinal fluid space in 11/19 (57.9%), changes in the gray matter (neuronal migration defects, porencephaly) in 9/19 (47.3%), white matter changes in 12/19 (63.1%) and abnormalities of the posterior fossa and hindbrain in 12/19 (63.1%). In patients with inborn errors of metabolism, dysgenesis of the corpus callosum serves as a marker for other developmental defects within the nervous system. We discuss here potential mechanisms by which metabolic defects affect diverse biochemical pathways, altering key neurobiological processes (e.g. defective cell membrane formation, cellular bioenergetics and cell-to-cell signaling), that eventually lead to structural abnormalities in the developing nervous system.
  • 2007 年 47 巻 4 号 p. 136-148
    発行日: 2007年
    公開日: 2021/08/11
    ジャーナル オープンアクセス
    ABSTRACT  The frontonasal prominence of the developing avian embryo contains an organizing center, defined by juxtaposition of the Sonic hedgehog (Shh) and Fibroblast growth factor 8 (Fgf8) expression domains. This molecular interface presages any detectable growth of the frontonasal prominence, and experiments involving transplantation of this boundary epithelium have demonstrated it is a source of dorsal-ventral and rostral-caudal patterning information for the neural crest-derived mesenchyme of the upper beak. We explored the ontogeny of this organizing center by mapping the expression domains of both genes and their receptors and downstream targets. We tested the extent to which Shh and Fgf8 regulate each other's expression in this frontonasal organizer by either blocking or ectopically activating these pathways. Our experiments revealed mutual antagonism between the two molecules, which aids in establishing and maintaining a molecular boundary that subsequently influences patterning and growth of the middle and upper face.
  • 2007 年 47 巻 4 号 p. 149-155
    発行日: 2007年
    公開日: 2021/08/11
    ジャーナル オープンアクセス
    ABSTRACT  Male and female Crl:CD(SD) rats were fed a diet containing the rubber accelerator N,N-dicyclohexyl-2-benzothiazolesulfenamide (DCBS) at 0, 1500, 3000, 6000 or 10 000 p.p.m. (0, 83, 172, 343 or 551 mg/kg bw/day in males and 0, 126, 264, 476 or 707 mg/kg bw/day in females) for a total of 57 days beginning 16 days before mating in males, and a total of 61–65 days from 16 days before mating to day 21 of lactation in females. Body weight gains and food consumption were reduced in males at 6000 p.p.m. and higher and in females at 3000 p.p.m. and higher. The weights of the spleen at 6000 and 10 000 p.p.m. and of the thymus at 10 000 p.p.m. were decreased in females. No changes in estrous cyclicity, copulation index, fertility index, gestation index, delivery index, precoital interval or gestation length were observed at any dose of DCBS. Numbers of implantations at 6000 and 10 000 p.p.m. and pups delivered at 10 000 p.p.m. were reduced. There were no changes in the sex ratio or viability of pups. The body weights of male and female pups were lowered at 6000 p.p.m. and higher. Decreased weight of the spleen in weanlings was also observed in males at 1500 p.p.m. and higher and in females at 3000 p.p.m. and higher. The data indicate that DCBS possesses adverse effects on reproduction and development in rats.
  • 2007 年 47 巻 4 号 p. 156-157
    発行日: 2007年
    公開日: 2021/08/11
    ジャーナル オープンアクセス
    ABSTRACT  Pregnancy in a non-communicating rudimentary horn is rare and such a pregnancy culminating in the delivery of a live fetus is even rarer. Despite advances in ultrasonography, the accuracy of ultrasound in diagnosing rudimentary horn pregnancy at advanced gestation remains elusive. Confirmatory diagnosis is made only at laparotomy. We report a multigravidae who presented at 37 weeks with transverse lie oligoamnios and decreased perception of fetal movement since quickening. Laparotomy for placenta accreta suspected on ultrasound revealed non-communicating unruptured rudimentary horn pregnancy with a live fetus and placenta percreta. Successful extraction of a term live fetus weighing 2.7 kg with excision of the rudimentary horn was carried out.
  • 2007 年 47 巻 4 号 p. 158-160
    発行日: 2007年
    公開日: 2021/08/11
    ジャーナル オープンアクセス
    ABSTRACT  Prenatal diagnosis of lymphangiomas located in the posterior mediastinum has been reported to be extremely rare. We present a fetus with a prenatally diagnosed posterior mediastinal lymphangioma found at 28 weeks' gestation. Fetal ultrasound and magnetic resonance imaging (MRI) revealed a 46 × 26 × 30 mm multicystic mass extending above the diaphragm, located in the posterior mediastinum. The mass was symmetrically shaped and surrounded the thoracic aorta. No remarkable change was noted in the size, shape and texture of the cyst by serial ultrasound and the fetus did not develop cardiac failure or hydrops in the antenatal period. Postnatal chest X-ray and MRI confirmed the prenatal findings. The infant was asymptomatic, so he was placed on close follow-up without any medical or surgical treatment.
  • 2007 年 47 巻 4 号 p. 161
    発行日: 2007年
    公開日: 2021/08/11
    ジャーナル オープンアクセス
  • 2007 年 47 巻 4 号 p. 162-163
    発行日: 2007年
    公開日: 2021/08/11
    ジャーナル オープンアクセス
  • 2007 年 47 巻 4 号 p. 164
    発行日: 2007年
    公開日: 2021/08/11
    ジャーナル オープンアクセス
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